Table 2. [ATP6V0A2-Related Cutis Laxa: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Cutis laxa	100%	Combination of fine wrinkles & sagging skin; can vanish during childhood.
Prominent nasal root	100%
Downslanted palpebral fissures	100%	Recognizable facial dysmorphism
Enlarged fontanels w/delayed closure	100%
Congenital dislocation of hips	60%
Inguinal hernia	60%
High myopia	20%
Other ophthalmic issues	20%
Developmental delay / Intellectual disability	100%	Always speech delay; some can attend normal school
Seizure disorder	100%	Onset variable; may occur as late as adolescence
Neurologic decline	Possibly up to 40%	Unclear; few w/follow-up data
Abnormal brain imaging	90%	Brain malformation experts can make diagnosis from MRI.

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